ClinVar for MedGen (Select 1761611) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065784	NM_000817.3(GAD1):c.1040C>T (p.Thr347Met)	GAD1 (T347M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 89	GUncertain significance
Select item 3064894	NM_000817.3(GAD1):c.703_706del (p.Arg234_Glu235insTer)	GAD1	Microsatellite (nonsense)	Developmental and epileptic encephalopathy 89	GLikely pathogenic
Select item 2501091	NM_000817.3(GAD1):c.1297G>T (p.Gly433Ter)	GAD1 (G433*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy 89	GLikely pathogenic
Select item 1803976	NM_000817.3(GAD1):c.1370G>A (p.Arg457His)	GAD1 (R457H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 89	GLikely pathogenic
Select item 1327516	NM_000817.3(GAD1):c.1119+1G>A	GAD1	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy 89	GPathogenic
Select item 1327515	NM_000817.3(GAD1):c.87C>G (p.Tyr29Ter)	GAD1	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy 89	GPathogenic
Select item 1327514	NM_000817.3(GAD1):c.639-1445del	GAD1 (R224fs)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy 89	GPathogenic
Select item 1327513	NM_000817.3(GAD1):c.1691A>G (p.Asn564Ser)	GAD1	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 89	GPathogenic
Select item 988960	NM_000817.3(GAD1):c.1525G>A (p.Glu509Lys)	GAD1 (E509K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 988959	NM_000817.3(GAD1):c.1591C>T (p.Arg531Ter)	GAD1 (R531*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy 89	GPathogenic
Select item 988958	NM_000817.3(GAD1):c.812_816del (p.Val271fs)	GAD1 (V271fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy 89	GPathogenic
Select item 988957	NM_000817.3(GAD1):c.692AGA[1] (p.Lys232del)	GAD1 (K232del)	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy 89	GPathogenic
Select item 988956	NM_000817.3(GAD1):c.1414-1G>C	GAD1	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy 89	GPathogenic
Select item 332226	NM_000817.3(GAD1):c.111T>C (p.His37=)	GAD1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities +2 more	GBenign